nsv6114705
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:nsv5424210 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 283 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 281 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6114705 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,741,582 | 45,741,582 |
| nsv6114705 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 443,682 | 443,682 |
| nsv6114705 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,818,948 | 43,818,948 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17958021 | alu insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17958021 | Remapped | Perfect | NT_187663.1:g.4436 82_443683ins? | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 443,682 | 443,682 |
| nssv17958021 | Remapped | Perfect | NC_000017.11:g.457 41582_45741583ins? | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,741,582 | 45,741,582 |
| nssv17958021 | Submitted genomic | NC_000017.10:g.438 18948_43818949ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,818,948 | 43,818,948 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17958021 | 0.093 | 593 | 6344 |